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Genotype and psychological phenotype in tuberous sclerosis

¹ Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
² Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, UK
³ Department of Psychiatry, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin, Eire
⁴ Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK

Correspondence to:
J R Sampson
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4N, UK; sampson @cf.ac.uk] Received 23 July 2003
24 October 2003

Keywords: TSC1; TSC2; autism; infantile spasms; mental retardation; tuberous sclerosis

The first 150 words of the full text of this article appear below.

Tuberous sclerosis complex (TSC, MIM 191090 and 191100) is an autosomal dominant, multisystem disorder characterised by the development of a variety of hamartomatous growths.¹ The TSC phenotype includes renal involvement (in over 80% of patients) with angiomyolipomas and cysts; skin involvement with facial angiofibromas, hypomelanotic macules, shagreen patches, and periungual fibromas; and cardiac, ophthalmic, and pulmonary involvement. Many of the frequent and serious complications of TSC, including epilepsy, mental retardation, and a wide range of psychiatric and behavioural disorders, reflect the cerebral involvement that occurs in over 90% of cases. Structural abnormalities in the brain include: cortical tubers that are localised areas of loss of normal hexalaminar cortical organisation, and that contain abnormal and enlarged cells categorised as cytomegalic neurones and balloon cells; subependymal nodules that are localised proliferations of abnormal cells in the periventricular zone; and migration tracts through the white matter linking subependymal and cortical lesions.

Mental retardation . . . [Full text of this article]

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